Causes

Marfan syndrome is caused by defects in a gene called fibrillin-1. Fibrillin-1 plays an important role as the building block for connective tissue in the body.

The gene defect also causes the long bones of the body to grow too much. People with this syndrome have tall height and long arms and legs. How this overgrowth happens is not well understood.

Other areas of the body that are affected include:

Lung tissue (there may be a pneumothorax, in which air can escape from the lung into the chest cavity and collapse the lung)

The aorta, the main blood vessel that takes blood from the heart to the body may stretch or become weak (called aortic dilation or aortic aneurysm)

The eyes, causing cataracts and other problems (such as a dislocation of the lenses)

The skin

Tissue covering the spinal cord

In most cases, Marfan syndrome is passed down through families (inherited). However, up to 30% of people have no family history, which is called "sporadic." In sporadic cases, the syndrome is believed to be caused by a new gene change.

Symptoms

People with Marfan syndrome are very often tall with long, thin arms and legs and spider-like fingers (called arachnodactyly). The length of the arms is greater than height when arms are stretched out.

An echocardiogram or another test should be done every year to look at the base of the aorta and possibly the heart valves.

Treatment

Vision problems should be treated when possible.

Monitor for scoliosis, especially during the teenage years.

Medicine to slow the heart rate may help prevent stress on the aorta. To avoid injuring the aorta, people with the condition should avoid participating in contact sports. Some people may need surgery to replace the aortic root and valve.

People with Marfan syndrome who have heart valve conditions may need to take antibiotics before dental procedures to prevent endocarditis (infection of the valves). Pregnant women with Marfan syndrome must be monitored very closely because of the increased stress on the heart and aorta.

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